SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes

D Ponard, C Gaboriaud, D Charignon… - Human …, 2020 - Wiley Online Library
Abstract C1 inhibitor (C1Inh) deficiency is responsible for hereditary angioedema (C1‐INH‐
HAE) and caused by variants of the SERPING1/C1INH/C1NH gene. C1Inh is the major …

Co-occurrence between C1 esterase inhibitor deficiency and autoimmune disease: a systematic literature review

D Levy, T Craig, PK Keith, G Krishnarajah… - Allergy, Asthma & …, 2020 - Springer
Background Hereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting
in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH). The …

[HTML][HTML] Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses

Z Ren, S Zhao, T Li, HJ Wedner, JP Atkinson - Journal of Allergy and …, 2023 - Elsevier
Background The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to
defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are …

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

P Hujová, P Souček, L Grodecká… - Journal of clinical …, 2020 - Springer
Purpose Hereditary angioedema (HAE) is a rare autosomal dominant life-threatening
disease characterized by low levels of C1 inhibitor (type I HAE) or normal levels of …

Hereditary angioedema in Austria: prevalence and regional peculiarities

C Schöffl, M Wiednig, L Koch… - JDDG: Journal der …, 2019 - Wiley Online Library
Background Data on the prevalence and clinical features of Austrian patients with hereditary
angioedema (HAE) with C1‐inhibitor (C1‐INH) deficiency (HAE‐1) or dysfunction (HAE‐2) …

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

AK Jindal, A Rawat, A Kaur, D Sharma… - Pediatric Allergy and …, 2021 - Wiley Online Library
Background There is paucity of literature on long‐term follow‐up of patients with hereditary
angioedema (HAE) from developing countries. Objective This study was carried out to …

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population

X Wang, S Lei, Y Xu, S Liu, Y Zhi - Hereditas, 2022 - Springer
Background Hereditary angioedema (HAE) is a rare disease characterized by recurrent
attacks of severe swellings of the skin and submucosa. More than 900 variants of the …

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

A Mendoza-Alvarez, E Tosco-Herrera… - Frontiers in …, 2022 - frontiersin.org
Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor
dysfunction or dysregulation of the kinin cascade. The updated HAE management …

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1

JS Arias-Flórez, SX Ramirez, B Bayona-Gomez… - PloS one, 2024 - journals.plos.org
Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal
dominant disease. It is a highly variable, insidious, and potentially life-threatening condition …

First census of patients with hereditary angioedema in the canary islands

A Mendoza-Alvarez, I Marcelino-Rodriguez… - Journal of Clinical …, 2021 - mdpi.com
Hereditary angioedema (HAE) is a rare genetic condition whose main symptoms are
recurrent swelling in the skin, mucosa, and internal organs. Recent studies suggested that …